Abstract
The clinical manifestation of cystic fibrosis (CF) is heterogeneous also in patients with the same cystic fibrosis transmembrane regulator (CFTR) genotype and in affected sibling pairs. Other genes, inherited independently of CFTR, may modulate the clinical manifestation and complications of patients with CF, including the severity of chronic sinonasal disease and the occurrence of chronic Pseudomonas aeruginosa colonization. The T2R38 gene encodes a taste receptor and recently its functionality was related to the occurrence of sinonasal diseases and upper respiratory infections. We assessed the T2R38 genotype in 210 patients with CF and in 95 controls, relating the genotype to the severity of sinonasal disease and to the occurrence of P. aeruginosa pulmonary colonization. The frequency of the PAV allele i.e., the allele associated with the high functionality of the T2R38 protein, was significantly lower in i) CF patients with nasal polyposis requiring surgery, especially in patients who developed the complication before 14 years of age; and ii) in CF patients with chronic pulmonary colonization by P. aeruginosa, especially in patients who were colonized before 14 years of age, than in control subjects. These data suggest a role for T2R38 as a novel modifier gene of sinonasal disease severity and of pulmonary P. aeruginosa colonization in patients with CF.
Highlights
The clinical manifestation of cystic fibrosis (CF) is heterogeneous in patients with the same cystic fibrosis transmembrane regulator (CFTR) genotype and in affected sibling pairs
The receptor recognizes bacterial products such as acyl-homoserine lactones secreted by several gram-negative bacteria including P. aeruginosa, and it is known that T2R38 and other bitter and sweet taste receptors are widely expressed by the upper respiratory tract ciliated cells and by solitary nose chemosensory cells[25,26]
The same was true for CF patients with no nasal polyposis (NP) or nasal turbinate hypertrophy (NTH)
Summary
The clinical manifestation of cystic fibrosis (CF) is heterogeneous in patients with the same cystic fibrosis transmembrane regulator (CFTR) genotype and in affected sibling pairs. The frequency of the PAV allele i.e., the allele associated with the high functionality of the T2R38 protein, was significantly lower in i) CF patients with nasal polyposis requiring surgery, especially in patients who developed the complication before 14 years of age; and ii) in CF patients with chronic pulmonary colonization by P. aeruginosa, especially in patients who were colonized before 14 years of age, than in control subjects These data suggest a role for T2R38 as a novel modifier gene of sinonasal disease severity and of pulmonary P. aeruginosa colonization in patients with CF. Various studies have described the increased occurrence of sinonasal diseases and upper respiratory infections in patients with altered T2R38 activity, including in patients with CF28–32
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